why is my nipt test inconclusive

What the heck, now so stressed! Just tonight I found out the second draw of blood for the Harmony test came back inconclusive. I just got referred to McMaster as well with a high risk FTS scan/blood work. I will keep you all informed about this issue. A Group Owner is a member that has initiated the creation of a group to connect with other members to share their journey through the same pregnancy & baby stages. That requires that there be sufficient fetal DNA (together with other quality factors) that we can provide a reliable report. Hope you get your peace of mind as well! I'm not sure who it was but scroll back a bit and i'm sure you'll find it! I think in my case, my first test must have been borderline. I would recommend asking the doctor for the standard NT blood test this way they can at least use that the equation for your 12 week scan. I had the same thing on my panorama test but I was 9 weeks. It provides information on the placenta and the baby's growth. I appreciate those who chime in as we all remember how difficult to be in this situation. NIPT analyzes the mother's blood to assess the genetic makeup of a fetus . Note that once you confirm, this action cannot be undone. Seems unfair to leave you in limbo not knowing. A Group Owner is a member that has initiated the creation of a group to connect with other members to share their journey through the same pregnancy & baby stages. Just wondering if anyone has been through something similar :( thanks. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. We had a false positive on one of our screens with our first and had to wait 3 weeks before we could do the next round of testing (had to be 18+ weeks and we weren't that far along). Normal chromosomes come. Ugh. I'm sure that it's not a definitive, but I like getting the facts and this has helped me be a little more mentally prepared. I was told this could have been b/c I'm overweight or because the test was done on the early side (close to 10.5w). sm1232, did you receive your results? To help you get started read our. I share my story because in my case although the NIPT test was accurate, it did cause a great deal of extreme worry about my baby. I'm so sorry to hear about your first trimester screening. 5/23: 3rd beta: 4000.6 + saw gestational sac and yolk sac. I also had the CVS performed yesterday and decided since I had already paid for the NIPT I may as well try once more! The main purpose of NIPT is to screen for major chromosome conditions (Down syndrome, trisomy 18, and trisomy 13). So doesnt seem like Im low risk but My obgyn wants to refer me to see a geneticist to discuss possible next steps. Im barely 53, but I have about a half an inch in my older sister and come. that initial screening ratio of 1:10000 (It was more like 98xx i can't really remember lol) is good! Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results. Have you had the NT scan done? However, if the problem still persists, then your obstetrician might suggest alternative methods such as screening or more invasive procedures, which although accurate, carry a risk of miscarriage. The second test was done at 11 weeks. Some radiologists like to comment on ALL the scans the technicians provided even the poor quality ones. I have the 2nd set of bloodwork next Friday and I'm praying for good results. to help the technology advance more with this newer test. Wouldn't that give you the results you're looking for? > This pageexplains some of these biological reasons. Are you going to have amnio? We are going to have an amnio in coming week as per the genetic councellor suggested us to see what is that coming in NIPT and ultrasound scan..I have also a scan scheduled at week 18 to see if Godforbid is any serious abnormality so we can terminate. Acosta decided to take advantage of non-invasive pregnancy testing, or NIPT, a relatively new prenatal screening method. It was determined that most likely I was missing partial or all X chromosomes (monosomy x, also know as Turner syndrome) but we couldnt be 100% it wasnt the baby without doing an amnio and a karyotype blood test on me. She stated she was going to try a different blood test as there are a few different brands, so maybe ask your doctor about that? Nipt test inconclusive twice - Page 2: Has anyone had the test come out inconclusive twice? You will see this come up in posts across this sub. The first rest was done around 10 weeks and the second around 14 weeks. NIPT (also called prenatal cell-free DNA screening) is a screening test that estimates the risk that your baby will be born with a genetic abnormality, including Down syndrome . Which according the clinical labs, they can taste at this rate. Easy to overthink (I sure did) and assume the worst - feels like Sod's law at the . All of your options are better than mine. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. And I'm sick with worry since my first trimester screen came back abnormal. All rights reserved. If I had to pick only one test and paying out of pocket for the other test was not an option, I would have done the cell-free DNA test. The inconclusive result was due to my fetal fraction being 4.4%. Just thought I'd update you or anyone else who may read this board. Update: I did the redraw and got my results back yesterday. The performance of NIPT is affected by several factors including maternal obesity, which results in a greater rate of no-calls for obese pregnant women. Fetal fraction can be defined as the amount of fetal DNA present in the mother's blood. Science has produced many safe, medically sound, and accurate methods to determine the sex of a fetus during pregnancy. Luckily, my insurance covered both. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. This time they are sending me to a high risk doctor. 127 BPM! But yes anyway, I'm sure it will all be fine. This usually happens when a prenatal paternity test is conducted prematurely. Had my redraw at 13+2, and results have come back the same . Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. They are up to 99% accurate for chromosomal abnormalities. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. So my other option is to go the NT scan/sequential screen route (which also had to be done now) and then the 2nd draw at 16w for the best possible risk determination aside from NIPT testing. I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! False positive rate for monosomy X was surprisingly high (91%). Group Black's collective includes Essence, The Shade Room and Naturally Curly. She mentioned they might suggest using another company to do the bloodtest (my NIPT were done by lifelab). No problems and the procedure was not nearly as bad as I thought. 20052023 BabyCenter, LLC, a Ziff Davis company. I'm sure that it's not a definitive, but I like getting the facts and this has helped me be a little more mentally prepared. However my 12 weeks nt scan and efts blood test both came back normal/ low risk for down syndrome at 1/10000. Use of this site is subject to our terms of use and privacy policy. Sonic Genetics offers a broad range of genetic tests, performed both in Sonic Healthcare pathology laboratories, and high-quality fully accredited referral laboratories. Has anyone had their results come back inconclusive? Were they able to get a conclusive result second time round? Hello! Contact us today to learn more about everything that we can do for you. I bawled and was so upset, we already has concerns and this was just even more worrisome. Just got my 2nd no result today. Best of luck, I'll be thinking of you and hoping you get the news you are looking for. In some cases, a test result might not give any useful information. 20052023 BabyCenter, LLC, a Ziff Davis company. I just found out today at 12.5 weeks that my test was not conclusive. Hope you're doing OK. Hi all. When a medical test is performed in a patient for a particular purpose, it is possible that the test will identify an unexpected abnormality that is not related to the initial reason for doing the test. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. Reason being: the labs offering these tests seem to only bill people paying out of pocket $250. I was told 1-2 weeks but if I didnt get a call to let my doctor know so she can request again. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. This usually happens when a, Non-Invasive Prenatal Baby Gender Blood Test. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. On the report, this is called a "low fetal fraction". Please contact the moderators of this subreddit if you have any questions or concerns. you will see them all over the place here. Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. This was simply a technical issue within the laboratory. Please thank your mum for me. I would DEFINITELY choose the NIPT test. My ex husband and I struggled to conceive for years. This post is meant as a welcome and quick information / resources to those who have just found this sub. I don't know what to do now? We work hard to share our most timely and active conversations with you. Went back yesterday and did a redraw, and now I'm hoping this one takes. That means whatever caused no result the first time is still interfering with the test. This occurs about 1 in every 150-200 samples. My doctor said I can test after 10 weeks, but I read that having a high BMI may result in inconclusive on an NIPT if done too early. NIPT is commonly used for chromosomal disorders that are caused by the presence of an extra (triploidy) or missing copy (aneuploidy) of a chromosome. Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. Noninvasive prenatal testing (NIPT), is a screening test for determining the risk of certain chromosomal abnormalities in the fetus. So frustrating and upsetting for you! Their reasoning is that it affects their accuracy numbersand they don't want to skid away from the 99%. I'm due 1/2015 and AMA (38). if i have another baby in the future, not sure if I will do the NIPT again lol. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. Has anyone else had this happen to them? Your story is wonderful. Crossing all fingers and toes its just a lab error. 2) NIPT tests are more accurate and test for MORE genetic disorders (they also tell you sex, if you want to know). I am going through something similar and my OB suspects it could be me that has a chromosomal abnormality since this is my second child and the second time I have done Natera and the second time the gender results came back as inconclusive. Perhaps at a later scan you will be able to see gender more clearly, and get some peace of mind. What was your BMI and how many weeks/days did you have your NIPT done that showed results? What company did your test? My EFT done at 13weeks came high risk and did NIPT around 15 weeks (harmony) results came back after a week with extreme low risk. Level 17, Grosvenor Place, 225 George Street, Sydney, NSW 2000. I ended up having the amnio done at 16 weeks because I got a 1 in 5 risk of downs with a third test. Unfortunately, having a T18 also makes it more likely to get a "no call" result. Get weekly updates on baby and your body. Your test result shows that your pregnancy is at low risk for these three conditions. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. I'm so confused and don't know what option to take right now. An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. They could well be inaccurate- most companies require at least 3%. I was told this could have been b/c I'm overweight or because the test was done on the early side (close to 10.5w). The test can also determine the sex of the fetus. She actually specifically said that it didn't mean anything, bad or good. All rights reserved. Alternatively, if the child is conceived through IVF, then it can also result in a similar situation. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. So as others have said, keep the faith if your first test is inconclusive! Hi bubblegum, I am in the same situation and am having a retest next week. I know its scary and I know my specific situation seems to be rare as far as lack of symptoms and what not so I cant give you any medical advice, but I can tell you that I am living a wonderful and fullfilling and I wish the same for your daughter no matter what the outcome. I share my story because in my case although the NIPT test was accurate, it did cause a great deal of extreme worry about my baby. Update: my redraw came back low risk for everything! thank you for sharing your story. Both of these usually go away but I'm just worried! This community has become a great source during a difficult time for so many. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. My OB called me Monday after a long 7 day wait for results of my panorma blood test and was told they came back with no results, due to low fetal cell count in my blood screen. Sounds right on the money, I got turned away for my first babys boot as it was a Friday an they send the test on the Monday and they said they would have it sitting there all weekend its not recommended. did east germany have money? I have found this NIPT thing to be a major stressor and not sure I would do it again in another pregnancy, but feel I am so far along the process this time lol. They said since they dont know which of my cells are missing the X because they only take a sample size, its hard to pinpoint what is impacted or not. Same happened to us. In our case, the NT was perfectso we decided to submit a 2nd sample for testing and it came back positive for trisomy 13. After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? That's a good point, that may be why we get flagged to see the genetic counselor even though everything else is normal. It was a long 3 weeks and everything turned out fine in the end. and mine came back at 3.7% and couldn't be read. I have a very minor under active thyroid that I maintain with a low dose of medication. Genetic tests are frequently not covered by Medicare or private health insurance, Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. Your body then filters it out. Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. 1997-2023 BabyCenter, LLC, a Ziff Davis company. Find advice, support and good company (and some stuff just for fun). I really do feel for those that don't have as many affordable options. Below this, the nipt returns the result "inconclusive." after the nipt results: Inconclusive sca an inconclusive sca. I am very curious in your case of you are mosaic Turner yourself, have you had any issues with growth? Reason being: these tests utilize actual DNA and not soft markers. NIPT is most often used to screen for trisomy. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. Keep us posted! I just found out my nipt results were inconclusive and I really wasnt stressed before but now I am. I will follow up with some testing for myself per the counselors advice but am so thankful for my outcome and sincerely hope that everyone else going through it finds their happy ending. What if NIPT cannot make an assessment? In cases where the father of the child has not been determined, couples may opt for a, Fetal fraction can be defined as the amount of fetal DNA present in the mothers blood. Small bits of DNA are released from the placenta in to your blood. They did not recommend further evaluation or testing with him. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. Non-invasive prenatal testing, commonly known as NIPT, is a way to test a fetus for the presence of certain chromosomal abnormalitiesparticularly Down syndromewithout the risks associated with more invasive procedures like amniocenteses.The necessary information can be obtained from a sample of the mother's blood, which contains some of the fetus' DNA. Apparently some places will do your test when theyre not supposed to. We strive to provide you with a high quality community experience. What Can NIPT Tell You? This testing analyzes small fragments of DNA that are circulating in a pregnant woman's blood. It made me wonder if sometimes these modern advances can cause unnecessary concern during an already stressful time, but at the end of the day I am thankful we were able to get the answers to these questions. We are part of Sonic Healthcare, an acknowledged world leader in the provision of diagnostic services, and Australias largest pathology provider. I could have written this myself. I have been a wreck and don't know what to do or why this is happening.. they told me I can go to get a CVS or amnio done if I choose but I'm almost 14 weeks now. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. Please place POST FLAIR on your actual post. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. MaterniT21 positive for Down Syndrome. That only happens in 1% of tests. Since the nIPT is inconclusive youll have this redrawn but in the mean time I would get the triple screen. In 2015, the American. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. Meet other parents of December 2019 babies and share the joys and challenges as your children grow. (1/19). Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. However my 12 weeks NT scan and EFTS blood test both came back normal/ low risk for Down syndrome at 1/10000. Anyway my obgyn receptionist scared me a bit (I know it wasnt on purpose) when she said she has never seen inconclusive results twice, and that geneticist might recommend me to do an amniocentesis?? Noninvasive prenatal testing (NIPT) has become popular with many physicians in screening pregnant patients. Rarely, tests results can be false negative, which occur when the results indicate a decreased risk or a genetic condition when the person is actually affected. Thank you for replying. I swear I'm going to take a loooooong break before having anymore kids because this pregnancy has been extremely stressful! Links to useful external resources of genetic information for clinicians. Also horrible stats about high incidence of redraw samples being inconclusive too. Warning: fopen(/nfs/c05/h05/mnt/158483/domains/lomejordelboxeo.com/html/wp-content/uploads/wp-file-manager-pro/fm_backup/.htaccess): failed to open stream: Permission . Like dont they know us preggers are already stressing?!? They told me there wasn't enough fetal DNA in my blood to accurately complete the test. Its 100% accurate (I believe). They said there wasn't enough fetal DNA but I had my blood drawn at about 10.5 weeks and then 12 weeks and it was still inconclusive! sm1232, did you get the results to your CVS? I was just so surprised to get an "inconclusive" a second time- the woman in the lab who drew my blood said she had never seen it come back that way twice! Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. There are a few other reasons for odd results. Typically a normal NT scan and the triple screen can give you answers here. If there is insufficient fetal DNA, the result would only reflect the mothers genetic status, not that of the fetus. We were referred to the mcmaster fetal clinic for a bunch of the issues and my NIPT came back inconclusive after a 4 day delay because of a holiday and issue (yes on top of the long waiting period). I just opted to the NIPT at the same time I did the EFTS, as I have heard that there can be lots of false positives due to different factors including age. Just got this email from the lab doing my test!!! It actually doesn't stay in your system that long. The NIPT prenatal test is a trusted elective screening tool used to assess the genetic risk of a fetal chromosomal abnormality, such as Down syndrome, in the first trimester of pregnancy. I hope the baby is growing healthy. The user and all related content has been deleted. Your post will be hidden and deleted by moderators. I had two NIPT come back inconclusive. This is unlikely to be a lab mistake. Ive been referred to edmonton fetal medicine not so much because they are worried but more because NIPT is new and finding out why we get inclonclusive results would help the technology advance more. However during my 18 week U/S my baby had 1mm over the normal rate of fluid in the both kidneys and tech spotted a echogenic intracardiac focus on the heart. think twice before sharing personal details, foster a friendly and supportive environment, remove fake accounts, spam and misinformation, delete posts that violate our community guidelines, reviewed by our medical review board and team of experts. why is my nipt test inconclusive. Create an account or log in to participate. Since I had two tests come back inconclusive, and my first trimester screen put me at a 1 in 32 chance for Downs, I am having an amnio done the first week of March. Now I'm seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. This discussion is archived and locked for posting. The DNA sample of the potential father is collected through a buccal swab, and the two samples are compared to determine paternity. Often Look up their websites and they will tell you the disorders they test for and the accuracy. I was very apprehensive about it, but my result came back fine. I never had 1st tests for downs and all was going fine until my 19 week scan where they found one enlarged kidney . We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. Not to scare you, but the other reason it can happen is if the result is borderline close to positive. your gp will sort it out for you love. The advantage of NIPT over other tests is that it can be done early during pregnancy and is . Why genetic testing is bad? All rights reserved. However, they got all the ones they needed for the NIPT which were good. I'm waiting on my nipt test results now too. Hopefully will have before weds next week. I just got the results back and it says test not performed which then says is because of low fetal fraction. Sorry youve gone through this stress xx. It has to be at least above 4 percent to give a conclusive result. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Or just monitor babies kidneys? I'm 37 years old and his is my second baby. Thanks, I'm still waiting! Patients having this testing should know that NIPT results do not diagnose a genetic condition or give a yes/no answer, and should seek follow-up testing if appropriate. 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why is my nipt test inconclusive

why is my nipt test inconclusive